Results 201 to 210 of about 381,364 (391)

Lead Encephalopathy [PDF]

, 1961
A K Thould, M G Ashby
openalex   +1 more source

Hepatic encephalopathy: Novel insights into classification, pathophysiology and therapy.

Journal of Hepatology, 2020
C. Rose, P. Amodio, J. Bajaj, R. Dhiman, S. Montagnese, S. Taylor-Robinson, H. Vilstrup, R. Jalan   +7 more
semanticscholar   +1 more source

Biallelic pathogenic variants in COX11 are associated with an infantile‐onset mitochondrial encephalopathy

Human Mutation, Volume 43, Issue 12, Page 1970-1978, December 2022., 2022
Abstract Primary mitochondrial diseases are a group of genetically and clinically heterogeneous disorders resulting from oxidative phosphorylation (OXPHOS) defects. COX11 encodes a copper chaperone that participates in the assembly of complex IV and has not been previously linked to human disease. In a previous study, we identified that COX11 knockdown
Rocio Rius, Neal K. Bennett, Kaustuv Bhattacharya, Lisa G. Riley, Zafer Yüksel, Luke E. Formosa, Alison G. Compton, Russell C. Dale, Mark J. Cowley, Velimir Gayevskiy, Saeed M. Al Tala, Abdulrahman A. Almehery, Michael T. Ryan, David R. Thorburn, Ken Nakamura, John Christodoulou   +15 more
wiley   +1 more source

The effects of level and duration of play on cognition, mood and behavior among former football players [PDF]

, 2013
Thesis (M.A.)--Boston UniversityInterest in the short and long-term effects of concussions has drastically increased due to the recent high-profile deaths of former National Football League (NFL) players.
Bourlas, Alexandra P.
core   +1 more source

Severity of effect considerations regarding the use of mutation as a toxicological endpoint for risk assessment: A report from the 8th International Workshop on Genotoxicity Testing (IWGT)

Environmental and Molecular Mutagenesis, EarlyView.
Abstract Exposure levels without appreciable human health risk may be determined by dividing a point of departure on a dose–response curve (e.g., benchmark dose) by a composite adjustment factor (AF). An “effect severity” AF (ESAF) is employed in some regulatory contexts.
Barbara L. Parsons, Marc A. Beal, Kerry L. Dearfield, George R. Douglas, Min Gi, B. Bhaskar Gollapudi, Robert H. Heflich, Katsuyoshi Horibata, Michelle Kenyon, Alexandra S. Long, David P. Lovell, Anthony M. Lynch, Meagan B. Myers, Stefan Pfuhler, Alisa Vespa, Andreas Zeller, George E. Johnson, Paul A. White   +17 more
wiley   +1 more source

Destabilization of mutated human PUS3 protein causes intellectual disability

Human Mutation, Volume 43, Issue 12, Page 2063-2078, December 2022., 2022
The homodimer of pseudouridine synthase 3 converts uridines at position 39 in tRNAs to pseudouridine (ψ), which affects tRNA stability and regulates RNA–protein interactions. Several patient‐derived variants of PUS3 have been associated with neurodegenerative diseases.
Ting‐Yu Lin, Robert Smigiel, Bozena Kuzniewska, Joanna J. Chmielewska, Joanna Kosińska, Mateusz Biela, Anna Biela, Anna Kościelniak, Dominika Dobosz, Izabela Laczmanska, Andrzej Chramiec‐Głąbik, Jakub Jeżowski, Jakub Nowak, Monika Gos, Sylwia Rzonca‐Niewczas, Magdalena Dziembowska, Rafał Ploski, Sebastian Glatt   +17 more
wiley   +1 more source

Spongiform virus encephalopathies [PDF]

, 1972
D. Carleton Gajdusek
openalex   +1 more source

Ketogenic diet therapy for the treatment of pediatric epilepsy

Epileptic Disorders, EarlyView.
Abstract In 1921, the classic ketogenic diet was created at the Mayo Clinic in Rochester, Minnesota to treat epilepsy in children and adults. Over a century later, it is a widely used, standard‐of‐care therapy for typically treatment‐resistant epilepsy worldwide.
Babitha Haridas, Alexander Testino, Eric H. Kossoff   +2 more
wiley   +1 more source

ENPP1 deficiency: A clinical update on the relevance of individual variants using a locus‐specific patient database

Human Mutation, Volume 43, Issue 12, Page 1673-1705, December 2022., 2022
Abstract Loss‐of‐function variants in the ectonucleotide pyrophosphatase/phosphodiesterase family member 1 (ENPP1) cause ENPP1 Deficiency, a rare disorder characterized by pathological calcification, neointimal proliferation, and impaired bone mineralization. The consequence of ENPP1 Deficiency is a broad range of age dependent symptoms and morbidities
Stephanie A. Mercurio, Lauren M. Chunn, Gus Khursigara, Catherine Nester, Kathleen Wray, Ulrike Botschen, Mark J. Kiel, Frank Rutsch, Carlos R. Ferreira   +8 more
wiley   +1 more source

Clinical value of thromboelastography in predicting the risk of recurrence of acute ischemic stroke

Frontiers in Neurology
BackgroundThromboelastography (TEG) can objectively reflect the formation, development and rupture process of thrombosis in patients, but there are limited data on whether TEG can be used as a predictive tool for recurrence in patients with acute ...
Ruyue Guo, Ruyue Guo, Xiaoming Shen, Jin Lu, Jin Lu, Jiao Zhou, Jiao Zhou, Shinan Hao, Shinan Hao, Rui Lan, Yumin Xu   +10 more
doaj   +1 more source